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Volumn 83, Issue 6, 1999, Pages 855-861

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes

Author keywords

Ions, calcium; Malignant hyperthermia; Muscle skeletal, culture; Receptors, ryanodine

Indexed keywords

CALCIUM; RYANODINE; RYANODINE RECEPTOR;

EID: 0345440064     PISSN: 00070912     EISSN: None     Source Type: Journal    
DOI: 10.1093/bja/83.6.855     Document Type: Article
Times cited : (17)

References (34)
  • 2
    • 0000664610 scopus 로고
    • Malignant hyperthermia
    • Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
    • Gronert GA. Malignant hyperthermia. In: Engel AG, Franzini-Armstrong C, eds. Myology. Basic and Clinical, 2nd Edn. New York: McGraw-Hill, 1994; 1661-78
    • (1994) Myology. Basic and Clinical, 2nd Edn. , pp. 1661-1678
    • Gronert, G.A.1
  • 3
    • 0032480548 scopus 로고    scopus 로고
    • Malignant hyperthermia
    • Denborough M. Malignant hyperthermia. Lancet 1998; 352: 1131-6
    • (1998) Lancet , vol.352 , pp. 1131-1136
    • Denborough, M.1
  • 4
    • 0030006962 scopus 로고    scopus 로고
    • The structural organization of the human skeletal muscle ryanodine receptor (RYRI) gene
    • Phillips MS, Fujii J, Khanna VK, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYRI) gene. Genomics 1996; 34: 24-41
    • (1996) Genomics , vol.34 , pp. 24-41
    • Phillips, M.S.1    Fujii, J.2    Khanna, V.K.3
  • 6
    • 17344368549 scopus 로고    scopus 로고
    • Identification of novel mutations in the ryanodine-receptor gene (RYRI) in malignant hyperthermia: Genotype-phenotype correlation
    • Manning BM, Quane KA, Ording H, et al. Identification of novel mutations in the ryanodine-receptor gene (RYRI) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998; 62: 599-609
    • (1998) Am J Hum Genet , vol.62 , pp. 599-609
    • Manning, B.M.1    Quane, K.A.2    Ording, H.3
  • 7
    • 0033052512 scopus 로고    scopus 로고
    • Mutation screening of the RYRI gene and identification of two novel mutations in Italian malignant hyperthermia families
    • Barone V, Massa O, Intravaia E, et al. Mutation screening of the RYRI gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet 1999; 36: 115-18
    • (1999) J Med Genet , vol.36 , pp. 115-118
    • Barone, V.1    Massa, O.2    Intravaia, E.3
  • 8
    • 0031057519 scopus 로고    scopus 로고
    • Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle
    • Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrmann-Frank A. Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem 1997; 272: 5256-60
    • (1997) J Biol Chem , vol.272 , pp. 5256-5260
    • Richter, M.1    Schleithoff, L.2    Deufel, T.3    Lehmann-Horn, F.4    Herrmann-Frank, A.5
  • 10
    • 0028929891 scopus 로고
    • Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
    • Sudbrak R, Procaccio V, Klausnitzer M, et al. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 1995; 56: 684-91
    • (1995) Am J Hum Genet , vol.56 , pp. 684-691
    • Sudbrak, R.1    Procaccio, V.2    Klausnitzer, M.3
  • 11
    • 0028243282 scopus 로고
    • Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
    • Iles DE, Lehmann Horn F, Scherer SW, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 1994; 3: 969-75
    • (1994) Hum Mol Genet , vol.3 , pp. 969-975
    • Iles, D.E.1    Lehmann Horn, F.2    Scherer, S.W.3
  • 12
    • 8244242525 scopus 로고    scopus 로고
    • A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
    • Robinson RL, Monnier N, Wolz W, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 1997; 6: 953-61
    • (1997) Hum Mol Genet , vol.6 , pp. 953-961
    • Robinson, R.L.1    Monnier, N.2    Wolz, W.3
  • 13
    • 0030922550 scopus 로고    scopus 로고
    • Malignant-hyperthermia susceptibility is associated with a mutation of the alpha I-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
    • Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha I-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997; 60: 1316-25
    • (1997) Am J Hum Genet , vol.60 , pp. 1316-1325
    • Monnier, N.1    Procaccio, V.2    Stieglitz, P.3    Lunardi, J.4
  • 14
    • 0021149183 scopus 로고
    • A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility
    • European MH group. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 1984; 56: 1267-9
    • (1984) Br J Anaesth , vol.56 , pp. 1267-1269
  • 15
    • 0024790479 scopus 로고
    • Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group
    • Larach MG. Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth Analg 1989; 69: 511-15
    • (1989) Anesth Analg , vol.69 , pp. 511-515
    • Larach, M.G.1
  • 16
    • 0029925708 scopus 로고    scopus 로고
    • Malignant hyperthermia (MH) diagnostics: A comparison between the halothane-caffeine- and the ryanodine-contracture-test results in MH susceptible, normal and control muscle
    • Hartung E, Koob M, Anetseder M, et al. Malignant hyperthermia (MH) diagnostics: a comparison between the halothane-caffeine- and the ryanodine-contracture-test results in MH susceptible, normal and control muscle. Acta Anaesthesiol Scand 1996; 40: 437-44
    • (1996) Acta Anaesthesiol Scand , vol.40 , pp. 437-444
    • Hartung, E.1    Koob, M.2    Anetseder, M.3
  • 17
    • 0031058126 scopus 로고    scopus 로고
    • An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia
    • Hopkins PM, Ellis FR, Halsall PJ, Stewart AD. An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia. Anesth Analg 1997; 84: 648-56
    • (1997) Anesth Analg , vol.84 , pp. 648-656
    • Hopkins, P.M.1    Ellis, F.R.2    Halsall, P.J.3    Stewart, A.D.4
  • 18
    • 0030762205 scopus 로고    scopus 로고
    • 4-Chloro-m-cresol test-a possible supplementary test for diagnosis of malignant hyperthermia susceptibility
    • Ording H, Glahn K, Gardi T, Fagerlund T, Bendixen D. 4-Chloro-m-cresol test-a possible supplementary test for diagnosis of malignant hyperthermia susceptibility. Acta Anaesthesiol Scand 1997; 41: 967-72
    • (1997) Acta Anaesthesiol Scand , vol.41 , pp. 967-972
    • Ording, H.1    Glahn, K.2    Gardi, T.3    Fagerlund, T.4    Bendixen, D.5
  • 19
  • 20
    • 0030044540 scopus 로고    scopus 로고
    • Porcine malignant hyperthermia: Genotype and contractile threshold of immature muscles
    • Gallant EM, Jordan RC. Porcine malignant hyperthermia: genotype and contractile threshold of immature muscles. Muscle Nerve 1996; 19: 68-73
    • (1996) Muscle Nerve , vol.19 , pp. 68-73
    • Gallant, E.M.1    Jordan, R.C.2
  • 21
    • 0032521180 scopus 로고    scopus 로고
    • Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors
    • Censier K, Urwyler A, Zorzato F, Treves S. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J Clin Invest 1998; 101: 1233-42
    • (1998) J Clin Invest , vol.101 , pp. 1233-1242
    • Censier, K.1    Urwyler, A.2    Zorzato, F.3    Treves, S.4
  • 22
    • 85038133446 scopus 로고
    • Bestimmung der intrazellulären kalziumkonzentration an menschlichen skelettmuskelfasern und myotuben von patienten mit anlage zur malignen hyperthermie
    • Uetz U, Pressmar J, Brinkmeier H, Iaizzo PA, Rüdel R, Lehmann-Horn F. Bestimmung der intrazellulären Kalziumkonzentration an menschlichen Skelettmuskelfasern und Myotuben von Patienten mit Anlage zur malignen Hyperthermie. Akt Neurol 1995; 22: S23
    • (1995) Akt Neurol , vol.22
    • Uetz, U.1    Pressmar, J.2    Brinkmeier, H.3    Iaizzo, P.A.4    Rüdel, R.5    Lehmann-Horn, F.6
  • 23
    • 0027469290 scopus 로고
    • Specific modifications of the membrane fatty acid composition of human myotubes and their effects on the muscular sodium channels
    • Brinkmeier H, Mutz JV, Seewald MJ, Melzner I, Rüdel R. Specific modifications of the membrane fatty acid composition of human myotubes and their effects on the muscular sodium channels. Biochim Biophys Acta 1993; 1145: 8-14
    • (1993) Biochim Biophys Acta , vol.1145 , pp. 8-14
    • Brinkmeier, H.1    Mutz, J.V.2    Seewald, M.J.3    Melzner, I.4    Rüdel, R.5
  • 24
    • 0027200739 scopus 로고
    • Calculation and control of free divalent cations in solutions used for membrane fusion studies
    • Föhr KJ, Warchol W, Gratzl M. Calculation and control of free divalent cations in solutions used for membrane fusion studies. Methods Enzymol 1993; 221: 149-57
    • (1993) Methods Enzymol , vol.221 , pp. 149-157
    • Föhr, K.J.1    Warchol, W.2    Gratzl, M.3
  • 25
    • 0021895138 scopus 로고
    • 2+ indicators with greatly improved fluorescence properties
    • 2+ indicators with greatly improved fluorescence properties. J Biol Chem 1985; 260: 3440-50
    • (1985) J Biol Chem , vol.260 , pp. 3440-3450
    • Grynkiewicz, G.1    Poenie, M.2    Tsien, R.Y.3
  • 26
    • 0028414945 scopus 로고
    • 2+ concentrations are not elevated in resting cultured muscle from Duchenne (DMD) patients and in MDX mouse muscle fibres
    • 2+ concentrations are not elevated in resting cultured muscle from Duchenne (DMD) patients and in MDX mouse muscle fibres. Pflügers Arch 1994; 426: 499-505
    • (1994) Pflügers Arch , vol.426 , pp. 499-505
    • Pressmar, J.1    Brinkmeier, H.2    Seewald, M.J.3    Naumann, T.4    Rüdel, R.5
  • 27
    • 0027999218 scopus 로고
    • Temporal differences in the induction of dihydropyridine receptor subunits and ryanodine receptors during skeletal muscle development
    • Kyselovic J, Leddy JJ, Ray A, Wigle J, Tuana BS. Temporal differences in the induction of dihydropyridine receptor subunits and ryanodine receptors during skeletal muscle development. J Biol Chem 1994; 269: 21770-7
    • (1994) J Biol Chem , vol.269 , pp. 21770-21777
    • Kyselovic, J.1    Leddy, J.J.2    Ray, A.3    Wigle, J.4    Tuana, B.S.5
  • 28
    • 0028807541 scopus 로고
    • Regulation of dihydropyridine and ryanodine receptor gene expression in skeletal muscle. Role of nerve, protein kinase C, and cAMP pathways
    • Ray A, Kyselovic J, Leddy JJ, Wigle JT, Jasmin BJ, Tuana BS. Regulation of dihydropyridine and ryanodine receptor gene expression in skeletal muscle. Role of nerve, protein kinase C, and cAMP pathways. J Biol Chem 1995; 270: 25837-44
    • (1995) J Biol Chem , vol.270 , pp. 25837-25844
    • Ray, A.1    Kyselovic, J.2    Leddy, J.J.3    Wigle, J.T.4    Jasmin, B.J.5    Tuana, B.S.6
  • 29
    • 0030003498 scopus 로고    scopus 로고
    • Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene
    • Schmoelzl S, Leeb T, Brinkmeier H, Brem G, Brenig B. Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene. J Biol Chem 1996; 271: 4763-9
    • (1996) J Biol Chem , vol.271 , pp. 4763-4769
    • Schmoelzl, S.1    Leeb, T.2    Brinkmeier, H.3    Brem, G.4    Brenig, B.5
  • 30
    • 0030802489 scopus 로고    scopus 로고
    • Expression of the ryanodine receptor type 3 calcium release channel during development and differentiation of mammalian skeletal muscle cells
    • Tarroni P, Rossi D, Conti A, Sorrentino V. Expression of the ryanodine receptor type 3 calcium release channel during development and differentiation of mammalian skeletal muscle cells. J Biol Chem 1997; 272: 19808-13
    • (1997) J Biol Chem , vol.272 , pp. 19808-19813
    • Tarroni, P.1    Rossi, D.2    Conti, A.3    Sorrentino, V.4
  • 31
    • 0027386042 scopus 로고
    • Triad formation: Organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitro
    • Flucher BE, Andrews SB, Fleischer S, Marks AR, Caswell A, Powell JA. Triad formation: organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitro. J Cell Biol 1993; 123: 1161-74
    • (1993) J Cell Biol , vol.123 , pp. 1161-1174
    • Flucher, B.E.1    Andrews, S.B.2    Fleischer, S.3    Marks, A.R.4    Caswell, A.5    Powell, J.A.6
  • 32
    • 0023914870 scopus 로고
    • Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs
    • Iaizzo PA, Klein W, Lehmann Horn F. Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflügers Arch 1988; 411: 648-53
    • (1988) Pflügers Arch , vol.411 , pp. 648-653
    • Iaizzo, P.A.1    Klein, W.2    Lehmann Horn, F.3


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